Detalhe da pesquisa
1.
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
Am J Med Genet A
; 152A(9): 2176-84, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683980
2.
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
J Clin Endocrinol Metab
; 92(9): 3738-42, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17595244
3.
Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.
Mol Cell Endocrinol
; 439: 187-193, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27561204
4.
Helicobacter pylori infection and autoimmune thyroid disease in young patients: the disadvantage of carrying the human leukocyte antigen-DRB1*0301 allele.
J Clin Endocrinol Metab
; 91(1): 176-9, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16263823
5.
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.
Mol Cytogenet
; 9(1): 21, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625702
6.
A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.
J Clin Endocrinol Metab
; 88(3): 1241-7, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12629113
7.
The acid-labile subunit of human ternary insulin-like growth factor-binding protein complex in girls with central precocious puberty before and during gonadotropin-releasing hormone analog therapy.
J Clin Endocrinol Metab
; 87(10): 4629-33, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12364447
8.
Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?
Eur J Hum Genet
; 10(2): 137-40, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11938445
9.
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.
Case Rep Genet
; 2013: 978087, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23984122
10.
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth.
J Clin Endocrinol Metab
; 95(11): 5011-7, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20719837
11.
Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients.
J Pediatr Surg
; 43(11): 1998-2003, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18970931
12.
Adult height in children with short stature and idiopathic delayed puberty after different management.
Eur J Pediatr
; 167(6): 677-81, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17717702
13.
Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule.
J Pediatr
; 143(4): 445-50, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14571217